C582Y (p.Cys582Tyr) variant of CASR (P41180)
C582Y (p.Cys582Tyr) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C582Y (p.Cys582Tyr) variant details
- p.Cys582Tyr
- rs104893690
- ClinGen CA119477
- ClinVar RCV000008819
- ClinVar RCV000477640
- Pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in NSHPT and HHC1)
- UniProt: Pathogenic (in NSHPT and HHC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial… (PMID 17698911)
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)